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Aliases for NAGPA Gene

Aliases for NAGPA Gene

  • N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase 2 3
  • Mannose 6-Phosphate-Uncovering Enzyme 3 4
  • Phosphodiester Alpha-GlcNAcase 3 4
  • UCE 3 6
  • Alpha-N-Acetylglucosaminyl Phosphodiesterase 3
  • Lysosomal Alpha-N-Acetylglucosaminidase 3
  • EC 3.1.4.45 4
  • APAA 3

External Ids for NAGPA Gene

Previous GeneCards Identifiers for NAGPA Gene

  • GC16M005107
  • GC16M005075

Summaries for NAGPA Gene

Entrez Gene Summary for NAGPA Gene

  • Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and trans-Golgi network. [provided by RefSeq, Jul 2008]

GeneCards Summary for NAGPA Gene

NAGPA (N-Acetylglucosamine-1-Phosphodiester Alpha-N-Acetylglucosaminidase) is a Protein Coding gene. Diseases associated with NAGPA include stuttering and speech disorder. Among its related pathways are Lysosome. GO annotations related to this gene include N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity.

UniProtKB/Swiss-Prot for NAGPA Gene

  • Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.

Gene Wiki entry for NAGPA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NAGPA Gene

Genomics for NAGPA Gene

Regulatory Elements for NAGPA Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NAGPA Gene

Start:
5,024,844 bp from pter
End:
5,034,141 bp from pter
Size:
9,298 bases
Orientation:
Minus strand

Genomic View for NAGPA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NAGPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NAGPA Gene

Proteins for NAGPA Gene

  • Protein details for NAGPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UK23-NAGPA_HUMAN
    Recommended name:
    N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase
    Protein Accession:
    Q9UK23
    Secondary Accessions:
    • B2RAS1
    • Q96EJ8

    Protein attributes for NAGPA Gene

    Size:
    515 amino acids
    Molecular mass:
    56073 Da
    Quaternary structure:
    • Homotetramer arranged as two disulfide-linked homodimers.

    Alternative splice isoforms for NAGPA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NAGPA Gene

Proteomics data for NAGPA Gene at MOPED

Post-translational modifications for NAGPA Gene

  • The precursor is cleaved and activated in the trans-Golgi network by a furin endopeptidase.
  • Glycosylation at Asn208, Asn214, Asn296, Asn366, Asn388, and Asn420
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NAGPA Gene

Domains for NAGPA Gene

Protein Domains for NAGPA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NAGPA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UK23

UniProtKB/Swiss-Prot:

NAGPA_HUMAN :
  • Q9UK23
Domain:
  • The tyrosine-based internalization signal may be essential for its retrieval from the plasma membrane to the TGN
  • The C-terminal NPFKD sequence is an attractive candidate for either an endocytosis signal acting at the plasma membrane or a retrieval signal acting at the TGN to return the enzyme to the cis/medial-Golgi
  • Contains 1 EGF-like domain.
genes like me logo Genes that share domains with NAGPA: view

No data available for Gene Families for NAGPA Gene

Function for NAGPA Gene

Molecular function for NAGPA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Glycoprotein N-acetyl-D-glucosaminyl-phospho-D-mannose + H(2)O = N-acetyl-D-glucosamine + glycoprotein phospho-D-mannose
UniProtKB/Swiss-Prot Function:
Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.

Enzyme Numbers (IUBMB) for NAGPA Gene

Gene Ontology (GO) - Molecular Function for NAGPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003944 N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity IEA --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with NAGPA: view

Phenotypes for NAGPA Gene

MGI mutant phenotypes for NAGPA:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with NAGPA: view

Animal Model Products

miRNA for NAGPA Gene

miRTarBase miRNAs that target NAGPA

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for NAGPA Gene

Localization for NAGPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NAGPA Gene

Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Note=Cis/medial Golgi.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NAGPA Gene COMPARTMENTS Subcellular localization image for NAGPA gene
Compartment Confidence
golgi apparatus 5
extracellular 2
lysosome 2
plasma membrane 2
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NAGPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus --
GO:0016021 integral component of membrane IEA --
GO:0032580 Golgi cisterna membrane IEA --
genes like me logo Genes that share ontologies with NAGPA: view

Pathways for NAGPA Gene

SuperPathways for NAGPA Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with NAGPA: view

Pathways by source for NAGPA Gene

1 KEGG pathway for NAGPA Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

UniProtKB/Swiss-Prot Q9UK23-NAGPA_HUMAN

  • Pathway: Protein modification; protein glycosylation

Gene Ontology (GO) - Biological Process for NAGPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS 10551838
GO:0006464 cellular protein modification process TAS 10551838
GO:0006486 protein glycosylation IEA --
GO:0006622 protein targeting to lysosome TAS 10551838
GO:0007040 lysosome organization TAS 10551838
genes like me logo Genes that share ontologies with NAGPA: view

Compounds for NAGPA Gene

(2) HMDB Compounds for NAGPA Gene

Compound Synonyms Cas Number PubMed IDs
N-Acetyl-D-glucosamine
  • 2-(acetylamino)-2-deoxyhexose
7512-17-6
Water
  • Dihydrogen oxide
7732-18-5

(1) Drugbank Compounds for NAGPA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
N-Acetyl-D-glucosamine
  • 2-Acetamido-2-deoxy-D-glucose
7512-17-6 target

(5) Novoseek inferred chemical compound relationships for NAGPA Gene

Compound -log(P) Hits PubMed IDs
mannose 6-phosphate 89.4 7
udp-n-acetylglucosamine 74.4 2
phosphodiester 71.5 10
n-acetylglucosamine 71.5 4
mannose 43.7 2
genes like me logo Genes that share compounds with NAGPA: view

Transcripts for NAGPA Gene

Unigene Clusters for NAGPA Gene

N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NAGPA

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NAGPA Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b ·
SP1: - -
SP2: - - - -
SP3:
SP4: - - - - - - - - - - - - -
SP5: - - - - -
SP6: - - -
SP7: - - - - - - - - - -
SP8: - - - - - -
SP9: -
SP10: - -
SP11:
SP12: - - - - - - - -
SP13: - - -

ExUns: 13c
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for NAGPA Gene

GeneLoc Exon Structure for
NAGPA
ECgene alternative splicing isoforms for
NAGPA

Expression for NAGPA Gene

mRNA expression in normal human tissues for NAGPA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for NAGPA Gene

This gene is overexpressed in Monocytes (60.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NAGPA Gene

SOURCE GeneReport for Unigene cluster for NAGPA Gene Hs.21334

mRNA Expression by UniProt/SwissProt for NAGPA Gene

Q9UK23-NAGPA_HUMAN
Tissue specificity: Isoform 2 may be brain-specific
genes like me logo Genes that share expressions with NAGPA: view

Expression partners for NAGPA Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for NAGPA Gene

Orthologs for NAGPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for NAGPA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NAGPA 35
  • 85.44 (n)
  • 83.3 (a)
NAGPA 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NAGPA 35
  • 86.45 (n)
  • 85.8 (a)
NAGPA 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nagpa 35
  • 82.14 (n)
  • 80.39 (a)
Nagpa 16
Nagpa 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NAGPA 35
  • 99.35 (n)
  • 99.61 (a)
NAGPA 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nagpa 35
  • 81.55 (n)
  • 80.97 (a)
oppossum
(Monodelphis domestica)
Mammalia NAGPA 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 53 (a)
OneToMany
-- 36
  • 48 (a)
OneToMany
chicken
(Gallus gallus)
Aves NAGPA 35
  • 64.27 (n)
  • 62.42 (a)
NAGPA 36
  • 60 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NAGPA 36
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nagpa 35
  • 56.04 (n)
  • 61.73 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:165534 35
  • 60.26 (n)
  • 58.97 (a)
NAGPA 36
  • 44 (a)
OneToOne
Species with no ortholog for NAGPA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NAGPA Gene

ENSEMBL:
Gene Tree for NAGPA (if available)
TreeFam:
Gene Tree for NAGPA (if available)

Paralogs for NAGPA Gene

No data available for Paralogs for NAGPA Gene

Variants for NAGPA Gene

Sequence variations from dbSNP and Humsavar for NAGPA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type MAF
rs7110 -- 5,024,951(-) GATGA(A/G)ATCAT utr-variant-3-prime, nc-transcript-variant
rs15951 -- 5,025,247(-) TGCTT(C/T)TGGCC utr-variant-3-prime, nc-transcript-variant
rs887854 -- 5,025,541(-) ATGAA(C/T)GGGGA reference, synonymous-codon, nc-transcript-variant
rs887855 -- 5,025,339(+) GATAG(C/G)ACTTG utr-variant-3-prime, nc-transcript-variant
rs917897 -- 5,025,152(-) TGCCA(A/G)CGAAC utr-variant-3-prime, nc-transcript-variant

Structural Variations from Database of Genomic Variants (DGV) for NAGPA Gene

Variant ID Type Subtype PubMed ID
esv2422516 CNV Deletion 17116639
esv25186 CNV Gain 19812545
nsv905254 CNV Loss 21882294
dgv795e1 CNV Complex 17122850
nsv905255 CNV Loss 21882294
nsv457360 CNV Loss 19166990
esv34300 CNV Gain 17911159
dgv796e1 CNV Complex 17122850
nsv817715 CNV Gain 17921354
nsv428318 CNV Gain 18775914
nsv1722 CNV Loss 18451855

Relevant External Links for NAGPA Gene

HapMap Linkage Disequilibrium report
NAGPA
Human Gene Mutation Database (HGMD)
NAGPA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NAGPA Gene

Disorders for NAGPA Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NAGPA Gene in MalaCards »

(3) Diseases for NAGPA Gene including...

UniProtKB/Swiss-Prot

NAGPA_HUMAN
  • Note=Defects in NAGPA have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech. {ECO:0000269 PubMed:20147709}.

(1) University of Copenhagen DISEASES for NAGPA Gene

genes like me logo Genes that share disorders with NAGPA: view

No data available for OMIM , Novoseek inferred disease relationships , Genatlas and External Links for NAGPA Gene

Publications for NAGPA Gene

  1. Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N- acetylglucosaminidase. (PMID: 10551838) Kornfeld R.H. … Canfield W.M. (J. Biol. Chem. 1999) 2 3 4 23
  2. Human mannose 6-phosphate-uncovering enzyme is synthesized as a proenzyme that is activated by the endoprotease furin. (PMID: 12058031) Do H. … Kornfeld S. (J. Biol. Chem. 2002) 2 3 4 23
  3. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. (PMID: 20147709) Kang C. … Drayna D. (N. Engl. J. Med. 2010) 3 4 23
  4. Purification and characterization of human lymphoblast N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. (PMID: 8922957) Page T. … Miller A.L. (Glycobiology 1996) 3 23
  5. Multiple signals regulate trafficking of the mannose 6-phosphate-uncovering enzyme. (PMID: 11723124) Lee W.S. … Kornfeld S. (J. Biol. Chem. 2002) 3 23

Products for NAGPA Gene

Sources for NAGPA Gene

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